ACSL4

acyl-CoA synthetase long chain family member 4
OMIM: 300157, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber ACSL4 in Fetal anomalies


Version 3.135
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS
  • MENTAL RETARDATION X-LINKED TYPE 63
Green ACSL4 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 63 300387
    • ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
    Green ACSL4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked 63, OMIM:300387
    • Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263
    Tags
    • Skewed X-inactivation
    No list ACSL4 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Literature
    Phenotypes
    • Long-chain fatty acid-CoA ligase 4 deficiency
    • Mental retardation
    • Autistic features
    • Intellectual disability
    Green ACSL4 in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked 63, 300387